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Diagnosing Huntington's disease on the medical ward.
BMJ Case Rep
January 2025
Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA
An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made.
View Article and Find Full Text PDFWernicke's encephalopathy presenting with confusion and hearing loss.
BMJ Case Rep
January 2025
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
We present a case of a male in his early 50s assessed in the emergency department with a seemingly clear alcohol history but with classic symptoms of Wernicke's encephalopathy (WE): disorientation, gait ataxia and vertical nystagmus. He also had significant bilateral hearing loss and profound anterograde amnesia. Neuroimaging revealed hallmark signs of WE, including symmetrical T2/fluid-attenuated inversion recovery hyperintensity in the medial thalami.
View Article and Find Full Text PDFGenotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model.
Gene
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, China; National Clinical Research Center for Child Health and Disorders, China; Ministry of Education Key Laboratory of Child Development and Disorders, China; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, China. Electronic address:
Mutations in ADGRV1 can cause seizures, but the mechanism remains unclear. The zebrafish model can be used to assess the functions of human ADGRV1 and its variant alleles during embryonic development. In this study, we summarized the phenotypic and genotypic characteristics of four children with ADGRV1 variation and based on this, we validated the ADGRV1 loss phenotype in an adgrv1-knockout zebrafish model.
View Article and Find Full Text PDFAssociation between physical activity and cognitive function in post-menopausal women with high parity: the chain-mediating effects of nutritional status and depression.
BMC Womens Health
January 2025
Department of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Background: It has been reported that the cognitive responses to physical activity (PA) in postmenopausal women vary by parity status, and women with higher parity show a significant association between PA and cognitive function. However, the potential pathways mediating the relationship between PA and cognitive function in women with higher parity remain unclear. The objective of this study was to examine this association in Chinese cohort and further investigate the mediating pathways.
View Article and Find Full Text PDFCharacterizing biomarkers of ageing in Singaporeans: the ABIOS observational study protocol.
Geroscience
January 2025
Healthy Longevity Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Ageing is the primary driver of age-associated chronic diseases and conditions. Asian populations have traditionally been underrepresented in studies understanding age-related diseases. Thus, the Ageing BIOmarker Study in Singaporeans (ABIOS) aims to characterise biomarkers of ageing in Singaporeans, exploring associations between molecular, physiological, and digital biomarkers of ageing.
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